POU1F1

POU class 1 homeobox 1
OMIM: 173110, Gene2Phenotype

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
Green POU1F1 in Mendeliome Version 1.3499	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Pituitary hormone deficiency, combined, 1 MIM# 613038 pituitary hypoplasia severe growth failure combined GH, PRL and TSH deficiency distinct facial features (prominent forehead, mid-facial hypoplasia, depressed nasal bridge, deep-set eyes and a short nose with anteverted nostrils)
Green POU1F1 in Callosome Level 2: Neurology and neurodevelopmental disorders Version 0.565	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Red POU1F1 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.398	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Pituitary hormone deficiency, combined, 1, MIM# 613038
Green POU1F1 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.110	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Pituitary hormone deficiency, combined, 1, 613038 (3)
Green POU1F1 in Pituitary hormone deficiency Level 2: Endocrine disorders Version 0.39	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Pituitary hormone deficiency, combined, 1 MIM# 613038 pituitary hypoplasia severe growth failure combined GH, PRL and TSH deficiency distinct facial features (prominent forehead, mid-facial hypoplasia, depressed nasal bridge, deep-set eyes and a short nose with anteverted nostrils)
Green POU1F1 in Additional findings_Paediatric Level 2: Screening Version 0.278	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Pituitary hormone deficiency
Green POU1F1 in Congenital hypothyroidism Level 3: Thyroid disorders Level 2: Endocrine disorders Version 0.53	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Genomics England PanelApp Expert Review Green Phenotypes congenital hypothyroidism Pituitary hormone deficiency, combined, 1, 613038 (Hypopthyroidism)
Green POU1F1 in Growth failure Version 1.83	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Pituitary hormone deficiency, combined, 1 MIM# 613038 pituitary hypoplasia severe growth failure combined GH, PRL and TSH deficiency distinct facial features (prominent forehead, mid-facial hypoplasia, depressed nasal bridge, deep-set eyes and a short nose with anteverted nostrils)
Green POU1F1 in Fetal anomalies Version 1.465	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Genetic Health Queensland Phenotypes Pituitary hormone deficiency, combined, 1, MIM# 613038
Green POU1F1 in Prepair 1000+ Level 2: Screening Version 2.14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Pituitary hormone deficiency, combined or isolated, 1, MIM#613038
Green POU1F1 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.140	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category A gene BeginNGS Phenotypes Pituitary hormone deficiency, combined, 1 MIM# 613038 Tags treatable endocrine
Green POU1F1 in Prepair 500+ Level 2: Screening Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Pituitary hormone deficiency, combined or isolated, 1, MIM#613038